Lv73
5010 积分 2021-08-09 加入
Overcoming the PROSP pseudogene challenge: accurate diagnosis of a novel PROS1 variant in a patient with dural venous sinus thrombosis
2天前
已关闭
Long-Read Next-Generation Sequencing Technologies Can Address Some Limitations of Short-Read Technologies in HLA Typing
14天前
已完结
MYH7B variants cause hypertrophic cardiomyopathy by activating the CaMK-signaling pathway
19天前
已完结
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome
1个月前
已完结
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review
2个月前
已完结
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
2个月前
已完结
A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92)
2个月前
已完结
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy
2个月前
已完结
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy
2个月前
已完结
Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations
5个月前
已完结
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